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Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients.

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第一作者: Futoshi,Sekiguchi
第一单位: Department of Human Genetics, Graduate school of medicine, Yokohama City University, Yokohama, Japan.
作者: Futoshi,Sekiguchi [1] ; Yoshinori,Tsurusaki [2] ; Nobuhiko,Okamoto [3] ; Keng Wee,Teik [4] ; Seiji,Mizuno [5] ; Hiroshi,Suzumura [6] ; Bertrand,Isidor [7] ; Winnie Peitee,Ong [4] ; Muzhirah,Haniffa [4] ; Susan M,White [8] ; Mari,Matsuo [9] ; Kayoko,Saito [9] ; Shubha,Phadke [10] ; Tomoki,Kosho [11] ; Patrick,Yap [12] ; Manisha,Goyal [13] ; Lorne A,Clarke [14] ; Rani,Sachdev [15] ; George,McGillivray [16] ; Richard J,Leventer [17] ; Chirag,Patel [18] ; Takanori,Yamagata [19] ; Hitoshi,Osaka [19] ; Yoshiya,Hisaeda [20] ; Hirofumi,Ohashi [21] ; Kenji,Shimizu [21] ; Keisuke,Nagasaki [22] ; Junpei,Hamada [23] ; Sumito,Dateki [24] ; Takashi,Sato [25] ; Yasutsugu,Chinen [26] ; Tomonari,Awaya [27] ; Takeo,Kato [28] ; Kougoro,Iwanaga [28] ; Masahiko,Kawai [28] ; Takashi,Matsuoka [29] ; Yoshikazu,Shimoji [29] ; Tiong Yang,Tan [8] ; Seema,Kapoor [30] ; Nerine,Gregersen [31] ; Massimiliano,Rossi [32] ; Mathieu,Marie-Laure [32] ; Lesley,McGregor [33] ; Kimihiko,Oishi [34] ; Lakshmi,Mehta [34] ; Greta,Gillies [35] ; Paul J,Lockhart [35] ; Kate,Pope [35] ; Anju,Shukla [36] ; Katta Mohan,Girisha [36] ; Ghada M H,Abdel-Salam [37] ; David,Mowat [38] ; David,Coman [39] ; Ok Hwa,Kim [40] ; Marie-Pierre,Cordier [41] ; Kate,Gibson [42] ; Jeff,Milunsky [43] ; Jan,Liebelt [44] ; Helen,Cox [45] ; Salima,El Chehadeh [46] ; Annick,Toutain [47] ; Ken,Saida [1] ; Hiromi,Aoi [48] ; Gaku,Minase [1] ; Naomi,Tsuchida [1] ; Kazuhiro,Iwama [1] ; Yuri,Uchiyama [49] ; Toshifumi,Suzuki [48] ; Kohei,Hamanaka [1] ; Yoshiteru,Azuma [1] ; Atsushi,Fujita [1] ; Eri,Imagawa [50] ; Eriko,Koshimizu [1] ; Atsushi,Takata [1] ; Satomi,Mitsuhashi [1] ; Satoko,Miyatake [51] ; Takeshi,Mizuguchi [1] ; Noriko,Miyake [1] ; Naomichi,Matsumoto [52]
作者单位: Department of Human Genetics, Graduate school of medicine, Yokohama City University, Yokohama, Japan. [1] Department of Human Genetics, Graduate school of medicine, Yokohama City University, Yokohama, Japan.;Faculty of Nutritional Science, Sagami Women's University, Sagamihara, Kanagawa, Japan. [2] Department of Medical Genetics, Osaka Women's and Children's Hospital, Osaka, Japan. [3] Department of Genetics, Hospital Kuala Lumpur, Kuala Lumpur, Malaysia. [4] Department of Clinical Genetics, Central Hospital, Aichi Developmental Disability Center, Kasugai, Japan. [5] Department of Pediatrics, Dokkyo Medical University, Tochigi, Japan. [6] CHU Nantes, Service de Genetique Medicale, Nantes, France. [7] Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.;Department of Paediatrics, University of Melbourne, Melbourne, Australia. [8] Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan. [9] Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India. [10] Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan. [11] Genetic Health Service New Zealand, Auckland, New Zealand.;Faculty of Medical and Health Sciences, University of Auckland, Auckland, New Zealand. [12] Rare Disease Clinic, J K Lone Hospital, SMS Medical College, Jaipur, Rajasthan, India. [13] British Columbia Children's Hospital Research Institute, University of British Columbia, Vancouver, BC, Canada. [14] Centre for Clinical Genetics, Sydney Children's Hospital, Randwick, NSW, Australia. [15] Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia. [16] Royal Children's Hospital Department of Neurology, Murdoch Children's Research Institute and University of Melbourne Department of Pediatrics, Parkville, 3052, Australia. [17] Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, QLD, Australia. [18] Department of Pediatrics, Jichi Medical University, Tochigi, Japan. [19] Department of Neonatology, Japanese Red Cross Medical Center, Tokyo, Japan. [20] Division of Medical Genetics, Saitama Children's Medical Center, Saitama, Japan. [21] Department of Homeostatic Regulation and Development, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan. [22] Department of Pediatrics, Ehime University Graduate School of Medicine, Ehime, Japan. [23] Department of Pediatrics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan. [24] Asahikawa-Kosei General Hospital, Hokkaido, Japan. [25] Department of Child Health and Welfare, Graduate School of Medicine, University of the Ryukyus, Nishihara, Japan. [26] Department of Anatomy and Developmental Biology, Graduate School of Medicine, Kyoto University, Kyoto, Japan.;Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan. [27] Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan. [28] Department of General Pediatrics, Okinawa Prefectural Nanbu Medical Center and Children's Medical Center, Okinawa, Japan. [29] Division of Genetics, Department of Pediatrics, Maulana Azad Medical College, New Delhi, India. [30] Genetic Health Service New Zealand, Auckland, New Zealand. [31] Hospices Civils de Lyon, Service de Génétique, Centre de Référence Anomalies du Développement, and INSERM U1028, CNRS UMR5292, CRNL, GENDEV Team, UCBL1, Bron, France. [32] South Australian Clinical Genetics Service, SA Pathology, Women's and Children's Hospital, Adelaide, Australia. [33] Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA. [34] Bruce Lefroy Centre for Genetic Health Research, Murdoch Children's Research Institute, Victoria, Australia. [35] Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India. [36] Department of Clinical Genetics, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt. [37] Department of Medical Genetics, Sydney Children's Hospital, Sydney, NSW, Australia. [38] Department of Paediatrics, The Wesley Hospital, Brisbane, QLD, Australia. [39] Department of Radiology, Ajou University Hospital, Suwon, Korea. [40] Service de Genetique, Hospices Civils de Lyon, Bron, France. [41] Genetic Health Service New Zealand, Christchurch Hospital, Christchurch, New Zealand. [42] Center for Human Genetics Inc, Cambridge, MA, USA. [43] South Australian Clinical Genetics Services, Women's and Children's Hospital, North Adelaide, Australia. [44] West Midlands Regional Genetics Service, Birmingham Women's NHS Foundation Trust, Birmingham Women's Hospital, Edgbaston, Birmingham, B15 2TG, UK. [45] Service de Genetique Medicale, Hopital de Hautepierre, Strasbourg, France. [46] Service de Genetique, CHRU de Tours, Tours, France. [47] Department of Human Genetics, Graduate school of medicine, Yokohama City University, Yokohama, Japan.;Department of Obstetrics and Gynecology, Juntendo University Faculty of Medicine, Tokyo, Japan. [48] Department of Human Genetics, Graduate school of medicine, Yokohama City University, Yokohama, Japan.;Department of Oncology, Yokohama City University Graduate School of Medicine, Yokohama, Japan.;Clinical Genetics Department, Yokohama City University Hospital, Yokohama, Kanagawa, Japan. [49] Department of Human Genetics, Graduate school of medicine, Yokohama City University, Yokohama, Japan.;Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA. [50] Department of Human Genetics, Graduate school of medicine, Yokohama City University, Yokohama, Japan.;Clinical Genetics Department, Yokohama City University Hospital, Yokohama, Kanagawa, Japan. [51] Department of Human Genetics, Graduate school of medicine, Yokohama City University, Yokohama, Japan. naomat@yokohama-cu.ac.jp. [52]
DOI 10.1038/s10038-019-0667-4
PMID 31530938
发布时间 2022-04-20
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